Incidental Mutation 'R5597:Lars2'
| ID |
437884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lars2
|
| Ensembl Gene |
ENSMUSG00000035202 |
| Gene Name |
leucyl-tRNA synthetase, mitochondrial |
| Synonyms |
|
| MMRRC Submission |
043149-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5597 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
123196001-123291731 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123284047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 745
(D745V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038863]
[ENSMUST00000217116]
|
| AlphaFold |
Q8VDC0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038863
AA Change: D745V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000036710
Gene: ENSMUSG00000035202
AA Change: D745V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1
|
57 |
223 |
7.6e-24 |
PFAM |
|
Pfam:tRNA-synt_1g
|
83 |
239 |
9.3e-20 |
PFAM |
|
Pfam:tRNA-synt_1_2
|
269 |
430 |
1.1e-8 |
PFAM |
|
Pfam:tRNA-synt_1
|
434 |
609 |
5.6e-8 |
PFAM |
|
Pfam:tRNA-synt_1g
|
589 |
682 |
1.2e-6 |
PFAM |
|
Pfam:tRNA-synt_1
|
633 |
678 |
1.6e-7 |
PFAM |
|
Pfam:Anticodon_1
|
724 |
867 |
9.2e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213711
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215087
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217116
|
| Meta Mutation Damage Score |
0.7171 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,927,363 (GRCm39) |
T1330I |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,816,487 (GRCm39) |
V322A |
probably benign |
Het |
| Anks3 |
T |
A |
16: 4,771,793 (GRCm39) |
H77L |
possibly damaging |
Het |
| Bsn |
A |
T |
9: 107,992,131 (GRCm39) |
M1207K |
probably benign |
Het |
| Btla |
A |
G |
16: 45,064,599 (GRCm39) |
T183A |
probably benign |
Het |
| Cdca8 |
G |
A |
4: 124,812,793 (GRCm39) |
R286W |
probably damaging |
Het |
| Cnot6l |
T |
C |
5: 96,278,978 (GRCm39) |
D80G |
probably damaging |
Het |
| Col16a1 |
A |
G |
4: 129,952,097 (GRCm39) |
D93G |
probably damaging |
Het |
| Ctsk |
T |
C |
3: 95,409,007 (GRCm39) |
V130A |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,813,591 (GRCm39) |
E2294G |
possibly damaging |
Het |
| Dcaf5 |
G |
T |
12: 80,386,817 (GRCm39) |
S436R |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,573,611 (GRCm39) |
L1792H |
probably benign |
Het |
| Dst |
T |
C |
1: 34,231,794 (GRCm39) |
V3307A |
probably benign |
Het |
| Frrs1 |
C |
T |
3: 116,671,887 (GRCm39) |
|
probably benign |
Het |
| Gimap4 |
T |
C |
6: 48,667,698 (GRCm39) |
L151P |
probably damaging |
Het |
| Hook2 |
A |
G |
8: 85,720,657 (GRCm39) |
N166S |
probably benign |
Het |
| Hp1bp3 |
A |
T |
4: 137,948,939 (GRCm39) |
M1L |
possibly damaging |
Het |
| Igkv4-56 |
T |
A |
6: 69,564,467 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm6b |
C |
T |
11: 69,296,900 (GRCm39) |
A456T |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,127,716 (GRCm39) |
C396R |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,433,570 (GRCm39) |
|
probably benign |
Het |
| Mapk4 |
T |
A |
18: 74,070,341 (GRCm39) |
Y184F |
probably benign |
Het |
| Mgat5 |
A |
G |
1: 127,325,303 (GRCm39) |
Y390C |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 88,030,789 (GRCm39) |
S889P |
probably benign |
Het |
| Nebl |
A |
G |
2: 17,382,978 (GRCm39) |
S100P |
probably benign |
Het |
| Nudt7 |
A |
T |
8: 114,878,506 (GRCm39) |
H154L |
probably benign |
Het |
| Olig2 |
A |
T |
16: 91,023,768 (GRCm39) |
M161L |
probably benign |
Het |
| Or2ah1 |
T |
C |
2: 85,653,804 (GRCm39) |
L163P |
probably damaging |
Het |
| Or5h24 |
A |
T |
16: 58,918,710 (GRCm39) |
V215D |
unknown |
Het |
| Or6c214 |
T |
C |
10: 129,590,755 (GRCm39) |
D188G |
probably damaging |
Het |
| Palmd |
T |
A |
3: 116,717,225 (GRCm39) |
D424V |
probably damaging |
Het |
| Pdzk1ip1 |
A |
G |
4: 114,950,689 (GRCm39) |
N164D |
probably damaging |
Het |
| Prkag1 |
A |
G |
15: 98,713,789 (GRCm39) |
S14P |
probably damaging |
Het |
| Prss12 |
C |
T |
3: 123,258,389 (GRCm39) |
P161L |
probably benign |
Het |
| Pwwp2a |
T |
C |
11: 43,573,422 (GRCm39) |
V168A |
probably benign |
Het |
| Rassf7 |
A |
G |
7: 140,797,024 (GRCm39) |
D79G |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,542,082 (GRCm39) |
I19F |
probably damaging |
Het |
| Slc30a10 |
C |
A |
1: 185,194,897 (GRCm39) |
H236Q |
probably damaging |
Het |
| Slco3a1 |
C |
A |
7: 73,934,210 (GRCm39) |
R654L |
probably benign |
Het |
| Smad4 |
A |
C |
18: 73,795,898 (GRCm39) |
F165L |
probably benign |
Het |
| Swsap1 |
G |
T |
9: 21,867,242 (GRCm39) |
R62M |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,202,724 (GRCm39) |
M113K |
probably benign |
Het |
| Tmem225 |
A |
G |
9: 40,060,726 (GRCm39) |
N95S |
possibly damaging |
Het |
| Tnni3k |
A |
T |
3: 154,577,765 (GRCm39) |
L658H |
probably damaging |
Het |
| Trem2 |
G |
A |
17: 48,658,840 (GRCm39) |
V202I |
probably benign |
Het |
| Tyw1 |
C |
T |
5: 130,303,498 (GRCm39) |
L289F |
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,919,651 (GRCm39) |
D205V |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,674,073 (GRCm39) |
D377G |
probably benign |
Het |
| Yy1 |
A |
G |
12: 108,781,436 (GRCm39) |
D367G |
probably damaging |
Het |
| Zfp11 |
A |
T |
5: 129,734,166 (GRCm39) |
C432S |
probably benign |
Het |
|
| Other mutations in Lars2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01743:Lars2
|
APN |
9 |
123,282,313 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01993:Lars2
|
APN |
9 |
123,224,008 (GRCm39) |
splice site |
probably benign |
|
|
IGL02155:Lars2
|
APN |
9 |
123,284,047 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02941:Lars2
|
APN |
9 |
123,288,650 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03090:Lars2
|
APN |
9 |
123,285,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03271:Lars2
|
APN |
9 |
123,288,549 (GRCm39) |
splice site |
probably null |
|
|
IGL03386:Lars2
|
APN |
9 |
123,282,455 (GRCm39) |
nonsense |
probably null |
|
|
IGL03410:Lars2
|
APN |
9 |
123,247,841 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
ulrich
|
UTSW |
9 |
123,247,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
K3955:Lars2
|
UTSW |
9 |
123,206,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0038:Lars2
|
UTSW |
9 |
123,206,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Lars2
|
UTSW |
9 |
123,267,186 (GRCm39) |
splice site |
probably benign |
|
|
R1671:Lars2
|
UTSW |
9 |
123,247,344 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1829:Lars2
|
UTSW |
9 |
123,260,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2219:Lars2
|
UTSW |
9 |
123,247,845 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2220:Lars2
|
UTSW |
9 |
123,247,845 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4610:Lars2
|
UTSW |
9 |
123,247,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5027:Lars2
|
UTSW |
9 |
123,270,560 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5195:Lars2
|
UTSW |
9 |
123,282,375 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5756:Lars2
|
UTSW |
9 |
123,267,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5783:Lars2
|
UTSW |
9 |
123,290,661 (GRCm39) |
missense |
probably benign |
|
|
R6045:Lars2
|
UTSW |
9 |
123,201,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6235:Lars2
|
UTSW |
9 |
123,240,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6323:Lars2
|
UTSW |
9 |
123,270,659 (GRCm39) |
nonsense |
probably null |
|
|
R6377:Lars2
|
UTSW |
9 |
123,283,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6395:Lars2
|
UTSW |
9 |
123,200,990 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7094:Lars2
|
UTSW |
9 |
123,288,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7144:Lars2
|
UTSW |
9 |
123,261,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7233:Lars2
|
UTSW |
9 |
123,241,019 (GRCm39) |
nonsense |
probably null |
|
|
R7254:Lars2
|
UTSW |
9 |
123,284,028 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7350:Lars2
|
UTSW |
9 |
123,256,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7413:Lars2
|
UTSW |
9 |
123,288,568 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7614:Lars2
|
UTSW |
9 |
123,224,176 (GRCm39) |
missense |
|
|
|
R7683:Lars2
|
UTSW |
9 |
123,206,895 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8000:Lars2
|
UTSW |
9 |
123,265,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8061:Lars2
|
UTSW |
9 |
123,288,562 (GRCm39) |
missense |
probably benign |
|
|
R8355:Lars2
|
UTSW |
9 |
123,283,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8364:Lars2
|
UTSW |
9 |
123,241,019 (GRCm39) |
nonsense |
probably null |
|
|
R8818:Lars2
|
UTSW |
9 |
123,221,892 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9007:Lars2
|
UTSW |
9 |
123,260,980 (GRCm39) |
nonsense |
probably null |
|
|
R9351:Lars2
|
UTSW |
9 |
123,265,366 (GRCm39) |
missense |
probably benign |
0.38 |
|
Z1177:Lars2
|
UTSW |
9 |
123,283,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCGAGGCAAGGACTTCC -3'
(R):5'- CTCTTACAAGAGGCCTGAAGC -3'
Sequencing Primer
(F):5'- AAGGACTTCCGGGACAGTC -3'
(R):5'- TCATTGTAAGTTGAAGGCCAGCC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation